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Enfermedad de Canavan - Symptom

Nombres alternativos

Degeneración esponjosa del cerebro; Deficiencia de aspartoacilasa

Síntomas:

Generalmente, los síntomas comienzan en el primer año de vida. Los padres tienden a notar cuando un niño no está alcanzando ciertos hitos fundamentales del desarrollo, incluyendo el control de la cabeza.

Los síntomas abarcan:

  • Postura anormal con los brazos flexionados y las piernas estiradas
  • Reflujo de material alimenticio dentro de la nariz (regurgitación nasal)
  • Problemas en la alimentación
  • Aumento en el tamaño de la cabeza (macrocefalia)
  • Irritabilidad
  • Falta de control de la cabeza cuando el bebé es halado desde una posición en la que está acostado o una posición de sentado (dejar caer la cabeza hacia atrás)
  • Disminución del tono muscular, especialmente de los músculos del cuello
  • Seguimiento visual deficiente o ceguera
  • Reflujo con vómito
  • Convulsiones
  • Retardo mental severo
  • Dificultad para deglutir

Pruebas y exámenes:

  • Exageración de los reflejos (hiperreflexia)
  • Rigidez articular
  • Pérdida de tejido en el nervio óptico (atrofia óptica)

Exámenes:

  • Reviewed last on: 11/10/2010
  • A.D.A.M. Editorial: David Zieve, MD, MHA, and David R. Eltz. Previously reviewed by Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network (10/14/2009).

Referencias

Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.

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